A benign congenital myopathy in an inbred Samaritan family.
We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.
Lev
Dorit
D
Institute of Medical Genetics, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. dorlev@post.tau.ac.il
Sadeh
Menachem
M
Watemberg
Nathan
N
Dabby
Ron
R
Vinkler
Chana
C
Ginzberg
Mira
M
Lerman-Sagie
Tally
T
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D012018:Reflex / Q000502:physiology