Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press710.17650/2222-8721-2014-0-1-6-14LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫCongenital muscular dystrophies: classification and diagnostic strategyВрожденные мышечные дистрофии: классификация и диагностикаRivierFrançois
Russian Federation
f-rivier@chu-montpellier.frMeyerPierre
Russian Federation
Walther-LouvieUlrike
Russian Federation
MercierMoïse
Russian Federation
EchenneBernard
Russian Federation
Quijano-RoySusana
Russian Federation
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier19042014416201802201518022015Copyright ©; 2014, Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S.Copyright ©; 2014, Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S.2014Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S.Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/7

Congenital muscular dystrophies (CMD) are a large group of genetically determined muscular diseases, initially defined by an early onset before the age of walking and dystrophic changes on myopathologic analyses. Currently, their definition is less restrictive with, a clinical continuum with limb-girdle muscular dystrophies, and closer histomorphological aspects with congenital myopathies. We distinguish 9 different forms of DMC, classified in 6 different groups depending on the location and/or function of the protein involved, on the control of 26 different genes. Ullrich's disease, UCMD (collagenopathy involving three different genes: COL6A1, COL6A2, COL6A3); secondary dystroglycanopathies (by abnormal glycosylation of alpha-dystroglycan involving 16 different genes); and DMC merosin negative, MDC1A, (merosinopathy secondary to mutations in a unique gene, LAMA2); represent the three most common forms. Rigid spine syndrome type 1, RSMD1 (selenopathy secondary to SEPN1 gene mutation) and L-CMD (laminopathy involving LMNA gene) are also part of the most current forms. Clinical features, plasmatic creatine kinase elevation or not, the presence or absence of clinical signs of central nervous system involvement, allow a first level of diagnostic pathway. According to these elements, muscle and/or cerebral MRI, muscle and/or skin biopsy will be discussed to guide the molecular investigations that will allow accurate diagnosis.

Врожденные мышечные дистрофии (ВМД) составляют клинически и генетически чрезвычайно гетерогенную группу мышечных заболеваний. Изначально ВМД рассматривались как группа болезней с дебютом в раннем детском возрасте, до начала самостоятельной ходьбы, и наличием признаков дистрофии при патогистологическом исследовании. Сегодня ВМД подразделяют не столь строго. Так, имеется целый спектр клинических форм, включающий дистрофии поясов с более поздним дебютом игистологической картиной, сближающей их с врожденными миопатиями. Различают 9 форм ВМД, распределенных на 6 групп согласно локализации и/или функции нарушенного белка и соответствующего одному из 26 генов. Чаще всего встречаются следующие формы ВМД: болезнь Ульриха (коллагенопатия, связанная с патологией 3 генов: COL6A1, COL6A2, COL6A3); вторичные дистрогликанопатии (нарушение гликозилирования α-дистрогликана с вовлечением 16 генов) и мерозин-дефицитная ВМД (мерозинопатия, обусловленная мутацией одного гена LAMA2). К классическим формам ВМД также относятся синдром ригидного позвоночника 1-го типа (селенопатия вследствие мутации гена SEPN) и L-ВМД (ламинопатия, вовлекающая ген LMNA). Диагностический поиск определяется выявлением характерной клинической картины, наличием или отсутствием признаков поражения центральной нервной системы, нормальным или умеренно повышенным уровнем креатинфосфокиназы. Выбор молекулярного исследования для уточнения диагноза определяется результатами предварительного лабораторно-инструментального обследования, включающего магнитно-резонансную томографию мышц и/или головного мозга, биопсии мышцы и/или кожи.

congenital muscular dystrophiescollagenopathiesdystroglycanopathiesmerosinopathiesselenopathieslaminopathiesврожденные мышечные дистрофииколлагенопатиидистрогликанопатиимерозинопатииселенопатииламинопатии1. Sparks S., Quijano-Roy S., Harper A. et al. Congenital muscular dystrophy overview in: Pagon RA, Bird TD, Dolan CR, et al. Gene reviews. 1993–2001.Sparks S., Quijano-Roy S., Harper A. et al. Congenital muscular dystrophy overview in: Pagon RA, Bird TD, Dolan CR, et al. Gene reviews. 1993–2001.2. Muntoni F., Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004;14(10):635–49.Muntoni F., Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004;14(10):635–49.3. Sparks S.E., Escolar D.M. Congenital muscular dystrophies. Handb Clin Neurol 2011;101:47–9.Sparks S.E., Escolar D.M. Congenital muscular dystrophies. Handb Clin Neurol 2011;101:47–9.4. Mercuri E., Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol 2012;72(1):9–17.Mercuri E., Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol 2012;72(1):9–17.5. Godfrey C., Foley A.R., Clement E. et al. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011;21(3):278–85.Godfrey C., Foley A.R., Clement E. et al. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011;21(3):278–85.6. Mathews K.D., Stephan C.M., Laubenthal K. et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology 2011;76(2):194–5.Mathews K.D., Stephan C.M., Laubenthal K. et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology 2011;76(2):194–5.7. Clement E.M., Feng L., Mein R. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008. Neuromuscul Disord 2012;22(6):522–7.Clement E.M., Feng L., Mein R. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008. Neuromuscul Disord 2012;22(6):522–7.8. Hayashi Y.K., Chou F.L., Engvall E. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet 1998;19(1):94–7.Hayashi Y.K., Chou F.L., Engvall E. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet 1998;19(1):94–7.9. Hara Y., Balci-Hayta B., Yoshida-Moriguchi T. A dystroglycan mutation associated with limbgirdle muscular dystrophy. N Engl J Med 2011;364(10):939–46.Hara Y., Balci-Hayta B., Yoshida-Moriguchi T. A dystroglycan mutation associated with limbgirdle muscular dystrophy. N Engl J Med 2011;364(10):939–46.10. Godfrey C., Clement E., Mein R. et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130(10):2725–35.Godfrey C., Clement E., Mein R. et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130(10):2725–35.11. Mercuri E., Messina S., Bruno C. et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009;72(21):1802–9.Mercuri E., Messina S., Bruno C. et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009;72(21):1802–9.12. Ferreiro A., Quijano-Roy S., Pichereau C. et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71(4):739–49.Ferreiro A., Quijano-Roy S., Pichereau C. et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71(4):739–49.13. Mitsuhashi S., Ohkuma A., Talim B. et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 2011;88(6):845–51.Mitsuhashi S., Ohkuma A., Talim B. et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 2011;88(6):845–51.14. Tomé F.M., Evangelista T., Leclerc A. et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994;317(4):351–7.Tomé F.M., Evangelista T., Leclerc A. et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994;317(4):351–7.15. Helbling-Leclerc A., Zhan X., Topaloglu H. et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11(2):216–8.Helbling-Leclerc A., Zhan X., Topaloglu H. et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11(2):216–8.16. Geranmayeh F., Clement E., Feng L.H. et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010;20(4):241–50.Geranmayeh F., Clement E., Feng L.H. et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010;20(4):241–50.17. Lamer S., Carlier R.Y., Pinard J.M. et al. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 1998;206(3):811–6.Lamer S., Carlier R.Y., Pinard J.M. et al. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 1998;206(3):811–6.18. Okada M., Kawahara G., Noguchi S. et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69(10):1035–42.Okada M., Kawahara G., Noguchi S. et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69(10):1035–42.19. Allamand V., Briñas L., Richard P. et al. ColVI myopathies: where do we stand, where do we go? Skelet Muscle 2011;1:30.Allamand V., Briñas L., Richard P. et al. ColVI myopathies: where do we stand, where do we go? Skelet Muscle 2011;1:30.20. Briñas L., Richard P., Quijano-Roy S. et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol 2010;68(4):511–20.Briñas L., Richard P., Quijano-Roy S. et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol 2010;68(4):511–20.21. Nadeau A., Kinali M., Main M. et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009;73(1):25–31.Nadeau A., Kinali M., Main M. et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009;73(1):25–31.22. Mercuri E., Lampe A., Allsop J. et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord. 2005;15(4):303–10.Mercuri E., Lampe A., Allsop J. et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord. 2005;15(4):303–10.23. Quijano-Roy S., Avila-Smirnow D., Carlier R.Y. et al. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 2012;22.Quijano-Roy S., Avila-Smirnow D., Carlier R.Y. et al. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 2012;22.24. Hicks D., Lampe A.K., Barresi R. et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008;70(14):1192–9.Hicks D., Lampe A.K., Barresi R. et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008;70(14):1192–9.25. Moore C.J., Winder S.J. The inside and out of dystroglycan post-translational modification. Neuromuscul Disord 2012;22(11):959–65.Moore C.J., Winder S.J. The inside and out of dystroglycan post-translational modification. Neuromuscul Disord 2012;22(11):959–65.26. Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 2013;288(10):6930–5.Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 2013;288(10):6930–5.27. Kobayashi K., Nakahori Y., Miyake M. et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature, 1998;394(6691):388–92.Kobayashi K., Nakahori Y., Miyake M. et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature, 1998;394(6691):388–92.28. Yoshida A., Kobayashi K., Manya H. et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1(5):717–24.Yoshida A., Kobayashi K., Manya H. et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1(5):717–24.29. Brockington M., Blake D.J., Prandini P. et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69(6):1198–209.Brockington M., Blake D.J., Prandini P. et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69(6):1198–209.30. Beltrán-Valero de Bernabé D., Currier S., Steinbrecher A. et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71(5):1033–43.Beltrán-Valero de Bernabé D., Currier S., Steinbrecher A. et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71(5):1033–43.31. van Reeuwijk J., Janssen M., van den Elzen C. et al. POMT2 mutations cause alphadystroglycan hypoglycosylation and Walker- Warburg syndrome. J Med Genet.2005 Dec;42(12):907–12.van Reeuwijk J., Janssen M., van den Elzen C. et al. POMT2 mutations cause alphadystroglycan hypoglycosylation and Walker- Warburg syndrome. J Med Genet.2005 Dec;42(12):907–12.32. Longman C., Brockington M., Torelli S et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003;12(21):2853–61.Longman C., Brockington M., Torelli S et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003;12(21):2853–61.33. Cirak S., Foley A.R., Herrmann R. et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013;136(Pt1):269–81.Cirak S., Foley A.R., Herrmann R. et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013;136(Pt1):269–81.34. Barone R., Aiello C., Race V. et al. DPM2-CDG: a muscular dystrophydystroglycanopathy syndrome with severe epilepsy. Ann Neurol 2012;72(4):550–8.Barone R., Aiello C., Race V. et al. DPM2-CDG: a muscular dystrophydystroglycanopathy syndrome with severe epilepsy. Ann Neurol 2012;72(4):550–8.35. Lefeber D.J., de Brouwer A.P., Morava E. et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PloS Genet 2011;7(12).Lefeber D.J., de Brouwer A.P., Morava E. et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PloS Genet 2011;7(12).36. Lefeber D.J., Schönberger J., Morava E. et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 2009;85(1):76–86.Lefeber D.J., Schönberger J., Morava E. et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 2009;85(1):76–86.37. Willer T., Lee H., Lommel M. et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 2012;44(5):575–80.Willer T., Lee H., Lommel M. et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 2012;44(5):575–80.38. Roscioli T., Kamsteeg E.J., Buysse K. et al.Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 2012;44(5):581–5.Roscioli T., Kamsteeg E.J., Buysse K. et al.Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 2012;44(5):581–5.39. Manzini M.C., Tambunan D.E., Hill R.S. et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012;91(3):541–7.Manzini M.C., Tambunan D.E., Hill R.S. et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012;91(3):541–7.40. Vuillaumier-Barrot S., Bouchet-Séraphin C., Chelbi M. et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 2012;91(6):1135–43.Vuillaumier-Barrot S., Bouchet-Séraphin C., Chelbi M. et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 2012;91(6):1135–43.41. Stevens E., Carss K.J., Cirak S. et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013;92(3):354–65.Stevens E., Carss K.J., Cirak S. et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013;92(3):354–65.42. Buysse K., Riemersma M., Powell G. et al. Missense mutations in β-1,3-Nacetylglucosaminyltransferase 1 (B3GnT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013;22(9):1746–54.Buysse K., Riemersma M., Powell G. et al. Missense mutations in β-1,3-Nacetylglucosaminyltransferase 1 (B3GnT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013;22(9):1746–54.43. Carss K.J., Stevens E., Foley A.R. et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013;93(1):29–41.Carss K.J., Stevens E., Foley A.R. et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013;93(1):29–41.44. Yang A.C., Ng B.G., Moore S.A. et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab 2013; 110(3):345–51.Yang A.C., Ng B.G., Moore S.A. et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab 2013; 110(3):345–51.45. Vuillaumier-Barrot S., Quijano-Roy S., Bouchet-Seraphin C. et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord 2009;19(3):182–8.Vuillaumier-Barrot S., Quijano-Roy S., Bouchet-Seraphin C. et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord 2009;19(3):182–8.46. Schara U., Kress W., Bönnemann C.G. et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008;12(3):224–30.Schara U., Kress W., Bönnemann C.G. et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008;12(3):224–30.47. Scoto M., Cirak S., Mein R. et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011;76(24):2973–8.Scoto M., Cirak S., Mein R. et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011;76(24):2973–8.48. Mercuri E., Pichiecchio A., Allsop J. et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging. 2007;25(2):433–40.Mercuri E., Pichiecchio A., Allsop J. et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging. 2007;25(2):433–40.49. Quijano-Roy S., Mbieleu B., Bönnemann C.G. et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008;64(2):177–86.Quijano-Roy S., Mbieleu B., Bönnemann C.G. et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008;64(2):177–86.50. Ben Yaou et al. Les Cahiers de myologie. 2010(3) :24–33.Ben Yaou et al. Les Cahiers de myologie. 2010(3) :24–33.51. Bonne G., Quijano-Roy S. Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol 2013;113:1367–76.Bonne G., Quijano-Roy S. Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol 2013;113:1367–76.52. Hattori A., Komaki H., Kawatani M. et al. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord 2012;22(2):149–51.Hattori A., Komaki H., Kawatani M. et al. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord 2012;22(2):149–51.53. Mercuri E., Clements E., Offiah A. et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010;67(2):201–8.Mercuri E., Clements E., Offiah A. et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010;67(2):201–8.54. Makri S., Clarke N.F., Richard P. et al. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. Neuromuscul Disord 2009;19(1):26–8.Makri S., Clarke N.F., Richard P. et al. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. Neuromuscul Disord 2009;19(1):26–8.