title: A benign congenital myopathy in an inbred Samaritan family.
abstract: 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.
authors.affiliation: Institute of Medical Genetics, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. dorlev@post.tau.ac.il
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Nathan
authors.initials: N
authors.lastname: Watemberg
authors.forename: Ron
authors.initials: R
authors.lastname: Dabby
authors.forename: Chana
authors.initials: C
authors.lastname: Vinkler
authors.forename: Mira
authors.initials: M
authors.lastname: Ginzberg
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: 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