Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle.
We describe a family, two brothers and their mother, who came to our observation because of slight to moderate hyperCKemia. The younger brother, who had the highest CK values, was only suffering from episodic myalgia, the other two members of the family were asymptomatic. Neurological examination was normal. Both brothers underwent muscle biopsy which was significant for the presence of abnormal sarcoplasmic areas of desmin accumulation. So far, desmin abnormalities have never been reported in patients with such a mild neuromuscular pattern. We discuss possible correlations between severity of clinical phenotype and degree of desmin accumulation.
Prelle
A
A
Istituto di Clinica Neurologica, Università di Milano, Centro Dino Ferrari, Italy.
Rigoletto
C
C
Moggio
M
M
Sciacco
M
M
Comi
G P
GP
Ciscato
P
P
Fagiolari
G
G
Rapuzzi
S
S
Bignotti
V
V
Scarlato
G
G
D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000097:blood*; D003893:Desmin / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology
D003893:Desmin; D003402:Creatine Kinase