KEGG   VARIANT: 3908v1
Entry
3908v1                      Variant                                
Name
LAMA2 mutation
Type
Loss of function
Gene
LAMA2  laminin subunit alpha 2 [KO:K05637]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 156225
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
H01958  Merosin-deficient congenital muscular dystrophy
Reference
  Authors
Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E
  Title
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
  Journal
Hum Mutat 21:103-11 (2003)
DOI:10.1002/humu.10157
Reference
  Authors
Prandini P, Berardinelli A, Fanin M, Morello F, Zardini E, Pichiecchio A, Uggetti C, Lanzi G, Angelini C, Pegoraro E
  Title
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
  Journal
Neurology 63:1118-21 (2004)
DOI:10.1212/01.wnl.0000138498.66940.7f
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