C. Ledeuil

Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy

M. Komajda, M. Desnos, J. Gueffet, 2003, Circulation.

First description of germline mosaicism in familial hypertrophic cardiomyopathy

M. Komajda, C. Moraine, B. Hainque, 2000, Journal of medical genetics.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

A. Kariminejad, P. Richard, C. Ledeuil, 2013, Iranian journal of child neurology.

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy

N. Petit, A. Krol, A. Ferreiro, 2006, EMBO reports.

Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.

J. Daubert, C. Leclercq, M. Komajda, 2000, Journal of molecular and cellular cardiology.