Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene-Reference-Cited by-同舟云学术

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

Published:2001-02 Issue:1 Volume:184 Page:15-19
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Nakagawa Masanori,Matsuzaki Toshio,Suehara Masahito,Kanzato Naomi,Takashima Hiroshi,Higuchi Itsuro,Matsumura Tsuyoshi,Goto Kanako,Arahata Kiichi,Osame Mitsuhiro

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference13 articles.

1. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case;Miyoshi;Brain,1986

2. Autosomal recessive distal dystrophy;Barohn;Neurology,1991

3. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14;Bejaoui;Neurology,1995

4. Genetic and physical mapping at the Limb-Girdle muscular dystrophy locus (LGMDB)on chromosome 2p;Bashir;Genomics,1996

5. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

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