Variant: rs121908954 

    present in Gene: DYSF
    present in Chromosome: 2
    Position on Chromosome: 71602794
    Alleles of this Variant: A/G

rs121908954 in DYSF gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PMID 17185750 2007 AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.

PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PMID 16996541 2006 Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PMID 17287450 2007 Symptomatic dysferlin gene mutation carriers: characterization of two cases.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 19084402 2009 A new phenotype of dysferlinopathy with congenital onset.

PMID 16705711 2006 Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

PMID 18306167 2008 Dysferlin-deficient muscular dystrophy features amyloidosis.

PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

PMID 10196377 1999 Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

PMID 14678801 2003 Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

PMID 11134403 2000 Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

rs121908954 in DYSF gene and Miyoshi Muscular Dystrophy 1 PMID 17287450 2007 Symptomatic dysferlin gene mutation carriers: characterization of two cases.

PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PMID 15515206 2004 Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.

PMID 11134403 2000 Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PMID 18306167 2008 Dysferlin-deficient muscular dystrophy features amyloidosis.

PMID 15116377 2004 Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.

PMID 11468312 2001 Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PMID 10196377 1999 Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

PMID 15477515 2004 Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PMID 11959863 2002 Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains.

PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.