familial paroxysmal rhabdomyolysis

a·cute re·cur·rent rhab·do·my·ol·y·sis

[MIM*268200] repeated paroxysmal attacks of muscle pain and weakness followed by passage of dark red-brown urine, often precipitated by intercurrent illness and diagnosed by demonstration of myoglobin in the urine; it is attributed to abnormal phosphorylase activity in skeletal muscle, but there may be more than one biologic type; probably autosomal recessive inheritance. In some cases, at least, there is deficiency of carnitine palmitoyl transferase. Synonym(s): familial paroxysmal rhabdomyolysis

familial paroxysmal rhabdomyolysis

(1) Acute recurrent rhabdomyolysis (see there), OMIM:268200.
(2) Glycogen storage disease V (see there), OMIM:232600.

单词	familial paroxysmal rhabdomyolysis
释义	familial paroxysmal rhabdomyolysis a·cute re·cur·rent rhab·do·my·ol·y·sis [MIM*268200] repeated paroxysmal attacks of muscle pain and weakness followed by passage of dark red-brown urine, often precipitated by intercurrent illness and diagnosed by demonstration of myoglobin in the urine; it is attributed to abnormal phosphorylase activity in skeletal muscle, but there may be more than one biologic type; probably autosomal recessive inheritance. In some cases, at least, there is deficiency of carnitine palmitoyl transferase. Synonym(s): familial paroxysmal rhabdomyolysis familial paroxysmal rhabdomyolysis (1) Acute recurrent rhabdomyolysis (see there), OMIM:268200. (2) Glycogen storage disease V (see there), OMIM:232600.
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