ArticleAmerican journal of human genetics1997
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 133 citations in OpenAlex.
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.Neurogenetics · 2022Article
- Distal myopathy due to TCAP variants in four unrelated Chinese patients.Neurogenetics · 2021Article
- Differential diagnosis of vacuolar myopathies in the NGS era.Brain pathology (Zurich, Switzerland) · 2020Article
- Genome sequence of the basal haplorrhine primate Tarsius syrichta reveals unusual insertions.Nature communications · 2016Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Article
- Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.BMC clinical pathology · 2014Article
- Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.Journal of molecular neuroscience : MN · 2013Article
- A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Neuromuscular disorders : NMD · 2011Article
- Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.BMC medical genetics · 2011Article
- Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].The American journal of pathology · 2011Article
- Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2010Article
- Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization.BMC genomics · 2010Article
- Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.Neuromuscular disorders : NMD · 2008Article
- [Limb girdle muscular dystrophies].Der Nervenarzt · 2004Review
- Limb-girdle muscular dystrophy.Current neurology and neuroscience reports · 2003Review
- Dysferlin protein analysis in limb-girdle muscular dystrophies.Journal of molecular neuroscience : MN · 2001Article
- A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.Journal of medical genetics · 2000Article
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6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The group of autosomal recessive (AR) muscular dystrophies includes, among others, two main clinical entities, the limb-girdle muscular dystrophies (LGMDs) and the distal muscular dystrophies. The former are characterized mainly by muscle wasting of the upper and lower limbs, with a wide range of clinical severity. This clinical heterogeneity has been demonstrated at the molecular level, since the genes for six AR forms have been cloned and/or have been mapped to 15q15.1 (LGMD2A), 2p12-16 (LGMD2B), 13q12 (LGMD2C), 17q12-q21.33 (LGMD2D),4q12 (LGMD2E), and 5q33-34 (LGMD2F). The AR distal muscular dystrophies originally included two subgroups, Miyoshi myopathy, characterized mainly by extremely elevated serum creatine kinase (CK) activity and by a dystrophic muscle pattern, and Nonaka myopathy, which is distinct from the others because of the normal to slightly elevated serum CK levels and a myopathic muscle pattern with rimmed vacuoles. With regard to our unclassified AR LGMD families, analysis of the affected sibs from one of them (family LG61) revealed some clinical and laboratory findings (early involvement of the distal muscles, mildly elevated serum CK levels, and rimmed vacuoles in muscle biopsies) that usually are not observed in the analysis of patients with LGMD2A-LGMD2F. In the present investigation, through a genomewide search in family LG61, we demonstrated linkage of the allele causing this form of muscular dystrophy to a 3-cM region on 17q11-12. We suggest that this form, which, interestingly, clinically resembles AR Kugelberg-Welander disease, should be classified as LGMD2G. In addition, our results indicate the existence of still another locus causing severe LGMD.
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