Disease/phenotypes | Designation | Gene location | Gene |
Protein defects | |||
Primary merosin deficiency | MDC1A | 6q22-q23 | LAMA2 |
Secondary merosin deficiency | MDC1B | 1q42 | ? |
Rigid spine syndrome (rigid spine muscular dystrophy 1) | RSMD1 | 1p35-p36 | SEPN1 |
Ullrich muscular dystrophy and Bethlem myopathy | 21q22.3 | COL6A1 | |
21q22.3 | COL6A2 | ||
2q37 | COL6A3 | ||
Lamin A-related congenital muscular dystrophy | 1q21.2 | LMNA | |
Dystroglycanopathies | |||
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) | MDDGA series | ||
POMT1-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA1 | 9q34.1 | POMT1 |
POMT2-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA2 | 14q24.3 | POMT2 |
POMGNT1-related muscle-eye-brain disease and Walker-Warburg syndrome | MDDGA3 | 1p34-p33 | POMGNT1 |
FKTN-related Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome | MDDGA4 | 9q31-q33 | FKTN |
FKRP-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA5 | 19q13.32 | FKRP |
LARGE-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA6 | 22q12.3-q13.1 | LARGE |
ISPD-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA7 | 7p21.2 | ISPD |
GTDC2-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA8 | 3p22.1 | GTDC2 |
DAG1-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA9 | 3p21.31 | DAG1 |
TMEM5-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA10 | 12q14.2 | TMEM5 |
B3GALNT2-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA11 | 1q42.3 | B3GALNT2 |
POMK-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA12 | 8p11.21 | POMK |
B3GNT1-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA13 | 11q13.2 | B3GNT1 |
GMPPB-related Walker-Warburg syndrome and muscle-eye-brain disease | MDDGA14 | 3p21.31 | GMPPB |
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B) | MDDGB series | ||
POMT1-related | MDDGB1 | 9q34.1 | POMT1 |
POMT2-related | MDDGB2 | 14q24.3 | POMT2 |
POMGNT1-related | MDDGB3 | 1p34-p33 | POMGNT1 |
FKTN-related | MDDGB4 | 9q31-q33 | FKTN |
FKRP-related | MDDGB5 | 19q13.32 | FKRP |
LARGE-related | MDDGB6 | 22q12.3-q13.1 | LARGE |
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