Rare Disease Library

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Myotilinopathy

Qualitative or quantitative defects of myotilin

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

Qualitative or quantitative defects of alpha-actin

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

Qualitative or quantitative defects of alpha-sarcoglycan

Qualitative or quantitative defects of alphaB-cristallin

Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

Qualitative or quantitative defects of beta-sarcoglycan

Qualitative or quantitative defects of calpain

Qualitative or quantitative defects of caveolin-3

Caveolinopathy

Qualitative or quantitative defects of collagen 6

Qualitative or quantitative defects of delta-sarcoglycan

Qualitative or quantitative defects of desmin

Qualitative or quantitative defects of dysferlin

Dysferlinopathy

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

Qualitative or quantitative defects of emerin

Qualitative or quantitative defects of filamin C

Qualitative or quantitative defects of FKRP

Qualitative or quantitative defects of fukutin

Qualitative or quantitative defects of gamma-sarcoglycan

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Qualitative or quantitative defects of integrin alpha-7

Integrinopathy

Qualitative or quantitative defects of myofibrillar proteins

Qualitative or quantitative defects of myotubularin

Qualitative or quantitative defects of nebulin

Qualitative or quantitative defects of perlecan

Qualitative or quantitative defects of plectin

Qualitative or quantitative defects of protein glycosyltransferase-like

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase

Qualitative or quantitative defects of protein POMGNT1

Qualitative or quantitative defects of protein O-mannosyltransferase 1

Qualitative or quantitative defects of protein O-mannosyltransferase 2

Qualitative or quantitative defects of protein SERCA1

Qualitative or quantitative defects of protein ZASP

Qualitative or quantitative defects of sarcoglycan

Sarcoglycanopathy

Qualitative or quantitative defects of selenoprotein N1

Qualitative or quantitative defects of telethonin

Qualitative or quantitative defects of titin

Qualitative or quantitative defects of Torsin-1A-interacting protein 1

Qualitative or quantitative defects of TRIM32

Qualitative or quantitative defects of tropomyosin

Qualitative or quantitative defects of troponin

Qualitative or quantitative protein defects in neuromuscular diseases

Quantitative and/or qualitative congenital phagocyte defect