RGD Reference Report - Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). - Rat Genome Database

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Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).

Authors: Hong, Daojun  Zhang, Wei  Wang, Wei  Wang, Zhaoxia  Yuan, Yun 
Citation: Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
RGD ID: 11667964
Pubmed: PMID:21296577   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jocn.2010.08.010   (Journal Full-text)

Limb girdle muscular dystrophy type 2I (LGMD2I) is caused by defects in the fukutin-related protein (FKRP) gene. In most Caucasian patients with LGMD2I, the condition is associated with a missense mutation - c.826C>A (p.Leu276Ile). We describe two Chinese brothers with progressive shoulder and pelvic muscle weakness. They had muscle stiffness and myalgia after exercise, but lacked obvious hypertrophy of the calves. Muscle biopsy showed dystrophic features with many rimmed vacuoles in the fibers. Immunohistochemistry and immunoblot analyses revealed reductions of alpha-(α)-dystroglycan (VIA4-1) and laminin-α2 (80-kDa C-terminal and 300-kDaN-terminal). Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in these patients. In addition, we summarise the clinical features of patients with LGMD2I in the Asian region. Our findings might indicate that the pathogenic FKRP mutations in Asian patients with LGMD2I are sporadic compound heterozygous mutations rather than the hot-spot c.826C>A mutation seen in Caucasian populations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FKRPHumanautosomal recessive limb-girdle muscular dystrophy type 2I  IAGP DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)RGD 
FkrpRatautosomal recessive limb-girdle muscular dystrophy type 2I  ISOFKRP (Homo sapiens)DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)RGD 
FkrpMouseautosomal recessive limb-girdle muscular dystrophy type 2I  ISOFKRP (Homo sapiens)DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fkrp  (fukutin related protein)

Genes (Mus musculus)
Fkrp  (fukutin related protein)

Genes (Homo sapiens)
FKRP  (fukutin related protein)


Additional Information