Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
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LGMD<br />
dominant<br />
LGMD1A 5q31 Myotilin<br />
LGMD1B 1q21 Lamin A/C<br />
LGMD1C 3p25 Caveolin-3<br />
LGMD1D 6q23 DNAJB6<br />
LGMD1E 7q ?<br />
LGMD1F 7q32 ?<br />
LGMD1G 4q21 ?<br />
‣ 90% autosomal recessive<br />
(CK- )<br />
‣ 10% autosomal dominant<br />
(CK n- )<br />
LGMD2A<br />
LGMD2B<br />
LGMD2C<br />
LGMD2D<br />
LGMD2E<br />
LGMD2F<br />
LGMD2G<br />
LGMD2H<br />
LGMD2I<br />
LGMD2J<br />
LGMD2K<br />
LGMD2L<br />
LGMD2M<br />
LGMD2N<br />
LGMD2O<br />
recessive<br />
15q15<br />
2p13<br />
13q12<br />
17q12<br />
4q12<br />
5q33<br />
17q11<br />
9q31<br />
19q13<br />
2q<br />
9q34<br />
11p13<br />
9q3<br />
14q24<br />
1p3<br />
Calpain-3<br />
Dysferlin<br />
g-Sarcoglycan<br />
a-Sarcoglycan<br />
b-Sarcoglycan<br />
d-Sarcoglycan<br />
Telethonin<br />
TRIM32<br />
FKRP<br />
Titin<br />
POMT1<br />
Anoctamin 5<br />
Fukutin<br />
POMT2<br />
POMGnT1
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