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Muscle (Hereditary diseases)
LE WE PMID CA
Muscle (Hereditary diseases)10849Muskel (Hereditaere Erkrankungen)

Bethlem myopathy

COL6A1

COL6A2

COL6A3

Congenital myasthenic syndrome

FHL1

Hyperkalemic periodic paralysis

Hypokaliemic periodic paralysis

Ion channel (Sodium)

Muscle (Hereditary diseases)

Nav1 4

Paramyotonia congenita

Potassium aggravated myotonia

Ullrich congenital muscular dystrophy

2010  
1
Sodium channelopathies of skeletal muscle result from gain or loss of function.
[20237798] Pflugers Arch 460(2): 239-48 (2010)
2010  
2
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
[20633900] J Neurol Sci 296(1-2): 22-9 (2010)
2011  
3
ColVI myopathies: where do we stand, where do we go?
[21943391] Skelet Muscle 1(-): 30 (2011)

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