常染色体显性远端肌病

Autosomal dominant distal myopathy

ORPHA:206650疾病组

基本事实

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
CAV3	caveolin 3	ORPHA:488650
CRYAB	crystallin alpha B	ORPHA:399058
FLNC	filamin C	ORPHA:63273
HNRNPA1	heterogeneous nuclear ribonucleoprotein A1	ORPHA:399086
KLHL9	kelch like family member 9	ORPHA:399081
LDB3	LIM domain binding 3	ORPHA:98912
MATR3	matrin 3	ORPHA:600
MYOT	myotilin	ORPHA:98911
TIA1	TIA1 cytotoxic granule associated RNA binding protein	ORPHA:603
TTN	titin	ORPHA:609
VCP	valosin containing protein	ORPHA:329478

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号