A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
- PMID: 11257469
- DOI: 10.1016/s0960-8966(00)00168-1
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
Abstract
We found a new dysferlin gene mutation in two Japanese families, one with limb-girdle muscular dystrophy 2B and the other with Miyoshi myopathy. All patients in the limb-girdle muscular dystrophy 2B family showed apparent proximal dominant muscle atrophy and weakness, whereas a patient with Miyoshi myopathy in the second family showed distal muscle involvement at an early stage. The common clinical feature of all patients in both families was preferential involvement of calf muscles rather than the tibialis anterior muscle, which was confirmed by muscle computed tomography scan. All patients in both families shared the same homozygous alleles for chromosome 2p13 markers, and dysferlin gene analysis revealed a novel missense mutation, a G to A transition at nt 5882, which changed aspartic acid to asparagine at codon 1837. Allele-specific polymerase chain reaction analysis was used for confirmation of the mutation and for genotype analysis of the family members.
Similar articles
-
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.Neurology. 2000 Dec 26;55(12):1931-3. doi: 10.1212/wnl.55.12.1931. Neurology. 2000. PMID: 11134403
-
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).Hum Mol Genet. 1999 May;8(5):871-7. doi: 10.1093/hmg/8.5.871. Hum Mol Genet. 1999. PMID: 10196377
-
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.Am J Med Genet. 2000 Apr 10;91(4):305-12. doi: 10.1002/(sici)1096-8628(20000410)91:4<305::aid-ajmg12>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10766988
-
Dysferlin and the plasma membrane repair in muscular dystrophy.Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001. Trends Cell Biol. 2004. PMID: 15066638 Review.
-
Distal myopathies.J Neurol. 2000 Mar;247(3):169-74. doi: 10.1007/s004150050557. J Neurol. 2000. PMID: 10787109 Review.
Cited by
-
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies.Int J Mol Sci. 2022 Apr 27;23(9):4824. doi: 10.3390/ijms23094824. Int J Mol Sci. 2022. PMID: 35563214 Free PMC article. Review.
-
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.BMC Med Genet. 2018 Jun 7;19(1):95. doi: 10.1186/s12881-018-0613-x. BMC Med Genet. 2018. PMID: 29879922 Free PMC article.
-
Novel diagnostic features of dysferlinopathies.Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650. Muscle Nerve. 2010. PMID: 20544924 Free PMC article.
-
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.J Neuromuscul Dis. 2022;9(4):477-492. doi: 10.3233/JND-210771. J Neuromuscul Dis. 2022. PMID: 35527561 Free PMC article.
-
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy.BMJ Case Rep. 2021 Jul 19;14(7):e242341. doi: 10.1136/bcr-2021-242341. BMJ Case Rep. 2021. PMID: 34281941 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
