Property:Has condition genetics
From WikiMSK
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C
More than 80 different genes have been identified +
E
Primary disease: SCN9A gain of function heterozygous pathogenic variant +
F
GLA pathogenic variant +
Heterozygous pathogenic contraction of D4Z4 repeat array in chromosome 4q35 (FSHD 1), hypomethylation of D4Z4 repeat array (FSHD 2) +
FEPS type I - TRPA1, activating <br>
FEPS type II - SCNA10A, activating<br>
FEPS type III - SCN11A (Nav1.9), activating +
L
Heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 +
M
Biallelic pathogenic variants in PYGM gene +
CLC1N pathogenic variant +
DMPK (DM1), CNBP/ZNF9 (DM2) +
P
SCN9A gain of function mutation +
Biallelic pathogenic variant in the GAA gene +
T
Pathogenic variants in muscle isoform of PFK +
