Two children with "dropped head" syndrome due to lamin A/C mutations.
LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD patients. Patient 1 harbored a novel, L35P mutation and patient 2 a previously reported R249W mutation. The striking phenotype associated with L-CMD is important to recognize, as molecular diagnostic testing can spare patients unnecessary procedures and prompt the physician to monitor for associated cardiac arrhythmias.
Chemla
Jeremy C
JC
Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, USA.
Kanter
Ronald J
RJ
Carboni
Michael P
MP
Smith
Edward C
EC
D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D006257:Head; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D007797:Laminin / Q000235:genetics*; D018908:Muscle Weakness; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology
D034904:Lamin Type A; D007797:Laminin; C440308:lamin C; C084098:laminin A