Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy since the age of one and early contractures of elbows. He is the only family member affected. Even though the dystrophy typically affects the heart as well, in the present case these signs are not yet expressed.
Lassuthová
Petra
P
Department of Child Neurology, Second School of Medicine, Charles University Prague, Prague, Czech Republic. petra.lassuthova@gmail.com
Baránková
Lucia
L
Kraus
Josef
J
Maríková
Tat'ána
T
Seeman
Pavel
P
D017668:Age of Onset; D004252:DNA Mutational Analysis; D004551:Elbow Joint; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008141:Lordosis / Q000235:genetics; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics; D055815:Young Adult
C494847:LMNA protein, human; D034904:Lamin Type A