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Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality
Author(s) -
Nakagawa M.,
Higuchi I.,
Yoshidome H.,
Isashiki Y.,
Ohkubo R.,
Kaseda S.,
Lwaki H.,
Fukunaga H.,
Osame M.
Publication year - 1996
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1996.tb00197.x
Subject(s) - facioscapulohumeral muscular dystrophy , proband , muscular dystrophy , weakness , medicine , abnormality , muscle biopsy , phenotype , dystrophy , pathology , biopsy , anatomy , genetics , biology , mutation , psychiatry , gene
We report two cases showing facioscapulohumeral muscular dystrophy (FSHD) with phenotypic diversity but the same genetic abnormality detected by a p13E‐11 probe. The proband, a 26‐year‐old woman, showed an early onset, tortuosity of retinal arterioles and respiratory failure. The 53‐year‐old mother of the proband had limb‐girdle (L‐G) type muscular weakness with very mild facial involvement. Muscle biopsy showed perivascular cell infiltration in both patients. These cases suggest that the phenotypic diversity ranges from L‐G type weakness to severe respiratory failure in FSHD family.