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Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance
Author(s) -
Somer Hannu,
Voutilainen Arja,
Knuutila Sakari,
Kaitila Ilkka,
Rapola Juhani,
Lein Hannu
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00375.x
Subject(s) - muscular dystrophy , muscle biopsy , autosomal recessive inheritance , duchenne muscular dystrophy , medicine , proximal muscle weakness , karyotype , x linked recessive inheritance , weakness , muscle weakness , endocrinology , pediatrics , biopsy , genetics , biology , x chromosome , anatomy , chromosome , gene
Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85‐fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.