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ENCongenital Myopathy 18 (CMYP18)
Alias:
Myopathy, Congenital, Due to Dihydropyridine Receptor Defect
Dihydropyridine Receptor Congenital Myopathy
Dhpr Congenital Myopathy
Cmyp18
Dhprm
Congenital Myopathy 18 Due to Dihydropyridine Receptor Defect
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Congenital Myopathy 18, also known as myopathy, congenital, due to dihydropyridine receptor defect, is related to kearns-sayre syndrome and congenital myopathy. An important gene associated with Congenital Myopathy 18 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and hypotonia
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MALACARDS
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