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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genetic classification of congenital muscular dystrophies

Genetic classification of congenital muscular dystrophies
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
Data from:
  1. Jones K, North K. The congenital muscular dystrophies. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Jones HR, De Vivo DC, Darras BT (Eds). Butterworth Heinemann, Philadelphia 2003.
  2. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=omim (Accessed on January 19, 2011).
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