Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality.
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.
Nakagawa
M
M
Third Department of Internal Medicine, Kagoshima University, Japan.
Higuchi
I
I
Yoshidome
H
H
Isashiki
Y
Y
Ohkubo
R
R
Kaseda
S
S
Iwaki
H
H
Fukunaga
H
H
Osame
M
M
D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D015246:Deoxyribonuclease EcoRI / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers; D015246:Deoxyribonuclease EcoRI