Phenotypic and Pathologic Evaluation of the myd Mouse. A Candidate Model for Facioscapulohumeral Dystrophy

Katherine D Mathews; Douglas Rapisarda; Holly L Bailey; Jeffrey C Murray; Robert L Schelper; Richard Smith

doi:10.1093/whq/54.4.601

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Phenotypic and Pathologic Evaluation of the myd Mouse. A Candidate Model for Facioscapulohumeral Dystrophy

Journal article

Peer reviewed

Phenotypic and Pathologic Evaluation of the myd Mouse. A Candidate Model for Facioscapulohumeral Dystrophy

Katherine D Mathews, Douglas Rapisarda, Holly L Bailey, Jeffrey C Murray, Robert L Schelper and Richard Smith

Journal of neuropathology and experimental neurology, Vol.54(4), pp.601-606

07/1995

DOI: 10.1093/whq/54.4.601

PMID: 7602333

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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.

Details

Title: Subtitle: Phenotypic and Pathologic Evaluation of the myd Mouse. A Candidate Model for Facioscapulohumeral Dystrophy
Creators: Katherine D Mathews
Douglas Rapisarda
Holly L Bailey
Jeffrey C Murray
Robert L Schelper
Richard Smith
Resource Type: Journal article
Publication Details: Journal of neuropathology and experimental neurology, Vol.54(4), pp.601-606
DOI: 10.1093/whq/54.4.601
PMID: 7602333
NLM abbreviation: J Neuropathol Exp Neurol
ISSN: 0022-3069
eISSN: 1554-6578
Language: English
Date published: 07/1995
Academic Unit: Neurology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Otolaryngology; Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Neurology (Pediatrics); Dental Research; Internal Medicine
Record Identifier: 9984006316902771

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