Congenital muscular dystrophy: Searching for a definition after 98 years

Neurology

Volumn 56, Issue 8, 2001, Pages 993-994

  Mendell, Jerry R ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTRONUCLEAR MYOPATHY; CHROMOSOME 1P; CHROMOSOME 6Q; CHROMOSOME 9Q; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE LOCUS; MUSCLE ATONIA; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; WALKER WARBURG SYNDROME;

EID: 0035942299     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.8.993     Document Type: Article

References (14)

1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
2. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
3. Three cases of myopathy. Infantile type
4. On the classification, natural history and treatment of myopathies
5. Arthrogryposis multiplex due to congenital muscular dystrophy
6. Congenital muscular dystrophy with merosin deficiency
7. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
8. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein
9. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine on chromosome 1p35-36
10. Congenital muscular dystrophies: 1997 update
11. Localisation of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
12. Muscle, eye, and brain disease: A new syndrome
13. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping