Familial nemaline myopathy: case reports.
Two siblings of two generations in the same family with nemaline myopathy are described. The disease affects all skeletal muscles, especially the facial muscles, producing a typical facial appearance. The diagnosis was made by light microscopy of histologically stained sections of muscle biopsy. The disease in our patients seems to be transmitted in an autosomal dominant manner. The purpose of this article is to emphasize the importance of recognition of the facial appearance by maxillofacial surgeons and the appropriate referral of patients for further neurologic examination.
Antoniades
K
K
Department of Oral and Maxillofacial Surgery, University of Thessaloniki, Greece.
Taskos
N
N
Mavromatis
J
J
Sakkas
L
L
Karakasis
D
D
D000328:Adult; D002648:Child; D004576:Electromyography; D005145:Face; D005152:Facial Muscles / Q000473:pathology; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology