Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.
J Neuropathol Exp Neurol
; 54(4): 601-6, 1995 Jul.
Article
in En
| MEDLINE
| ID: mdl-7602333
ABSTRACT
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease of unknown pathogenesis which is characterized by weakness of the face and shoulder girdle. It is associated with a sensorineural hearing loss which may be subclinical. FSHD has been mapped to the distal most portion of 4q35, although the gene has not yet been identified. Distal 4q has homology with a region of mouse chromosome 8 to which a mouse mutant, myodystrophy (myd), has been mapped. Muscle from homozygotes for the myd mutation appears dystrophic, showing degenerating and regenerating fibers, inflammatory infiltrates, central nuclei, and variation in fiber size. Brainstem auditory evoked potentials reveal a sensorineural hearing loss in myd homozygotes. Based on the homologous genetic map locations, and the phenotypic syndrome of dystrophic muscle with sensorineural hearing loss, we suggest that myd represents an animal model for the human disease FSHD.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Disease Models, Animal
/
Hearing Loss, Sensorineural
/
Mice, Mutant Strains
/
Muscular Dystrophies
/
Muscular Dystrophy, Animal
Limits:
Animals
/
Humans
Language:
En
Journal:
J Neuropathol Exp Neurol
Year:
1995
Document type:
Article
Affiliation country:
United States