Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic changes in the muscle biopsy. So far, only one gene, LAMA2 (6q2), which encodes th...

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Main Authors: Moghadaszadeh, B, Desguerre, I, Topaloglu, H, Muntoni, F, Pavek, S, Sewry, C, Mayer, M, Fardeau, M, Tomé, F M, Guicheney, P
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377161/
https://ncbi.nlm.nih.gov/pubmed/9585610
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