title: A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.
abstract: Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations. In the early stage of disease, the present patients showed similar clinical patterns to the previously described patients of LDM. However, in the later stage, fatty replacement and atrophy of paraspinal or proximal leg muscles was more severely marked than lower leg muscles, and asymmetric atrophies were observed in trapezius, subscapularis and adductor magnus muscles. Distal myopathy like LDM showed marked and predominant fatty infiltrations in paraspinal or proximal leg muscles with marked asymmetry. These observations expand the clinical spectrum of LDM with the MYH7 mutation.
authors.affiliation: Department of Neurology, Ewha Womans University School of Medicine, Seoul, Republic of Korea.
authors.forename: Jin-Mo
authors.initials: JM
authors.lastname: Park
authors.forename: Ye Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Jeong Hyun
authors.initials: JH
authors.lastname: Yoo
authors.forename: Young Bin
authors.initials: YB
authors.lastname: Hong
authors.forename: Ji Hoon
authors.initials: JH
authors.lastname: Park
authors.forename: Heasoo
authors.initials: H
authors.lastname: Koo
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D049310:Distal Myopathies / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics*
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains