Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing of adhalin cDNA prepared from skeletal muscle by re...

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Detalhes bibliográficos
Main Authors: Kawai, H, Akaike, M, Endo, T, Adachi, K, Inui, T, Mitsui, T, Kashiwagi, S, Fujiwara, T, Okuno, S, Shin, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC185739/
https://ncbi.nlm.nih.gov/pubmed/7657792
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