Limb-girdle muscular dystrophy due to emerin gene mutations.
BACKGROUND
Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.


OBJECTIVE
To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in EMD.


METHODS
Case reports.


METHODS
Academic research.


METHODS
Two male patients manifested proximal dominant muscle involvement, with minimal or no joint and cardiac involvement.


METHODS
Muscle biopsy and mutation analysis results.


RESULTS
Immunohistochemistry revealed an absence of emerin staining in muscle biopsy specimens. Mutation analysis identified nonsense mutations in EMD.


CONCLUSIONS
Mutations in EMD may indicate a limb-girdle muscular dystrophy phenotype. Identification of emerin deficiency among patients with limb-girdle muscular dystrophy is essential to prevent cardiac catastrophe.
Ura
Shigehisa
S
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.
Hayashi
Yukiko K
YK
Goto
Kanako
K
Astejada
Mina Nolasco
MN
Murakami
Terumi
T
Nagato
Masako
M
Ohta
Shigeru
S
Daimon
Yasuhisa
Y
Takekawa
Hidehiro
H
Hirata
Koichi
K
Nonaka
Ikuya
I
Noguchi
Satoru
S
Nishino
Ichizo
I
D001706:Biopsy; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005121:Extremities / Q000473:pathology; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006327:Heart Block / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D005819:Genetic Markers; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin