[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].

Article

[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].

Rinsho shinkeigaku = Clinical neurology - 1 Mar 1996

Endo T, Akaike M, Kawai H, Matsumura K, Saito S

Abstract excerpt

We have reported adhalin gene mutations in 4 patients from 3 families with malignant limb-girdle muscular dystrophy (MLGMD), and summarized the clinical features in adhalin-deficient muscular dystrophy (ADMD) reported as severe childhood autosomal recessive muscular dystrophy (SCARMD) in the Engl...

Topics

Adolescent
Child
Child, Preschool
Cytoskeletal Proteins
Female
Genes, Recessive
Humans
Male
Membrane Glycoproteins
Muscular Dystrophies
Mutation
Pedigree
Sarcoglycans

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