FKRP (826C&gt;A) frequently causes limb-girdle muscular dystrophy in German patients

Walter, Maggie C.; Petersen, Jens A.; Stucka, Rolf; Fischer, Dirk; Schröder, Rolf; Vorgerd, Matthias; Schroers, Anja; Schreiber, Herbert; Hanemann, C. Oliver; Knirsch, Ursula; Rosenbohm, Angela; Huebner, Angela; Barišić, Nenad; Horvath, Rita; Komoly, S.; Reilich, Peter; Müller‐Felber, Wolfgang; Pongratz, D.; Müller, Juliane S.; Auerswald, Ennes A.; Lochmüller, Hanns

doi:10.1136/jmg.2003.013953

Cited by 87 publications

(96 citation statements)

References 14 publications

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“…In a cohort of patients from Germany, myalgia, and myoglobinuria were noted as the first symptoms in the majority of patients. 11 Rhabdomyolysis precipitated by anesthesia has also been reported. 11 Clinically significant, dilated cardiomyopathy develops in approximately half of the patients, and it is independent of the severity of the skeletal muscle weakness.…”

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 98%

“…11 Rhabdomyolysis precipitated by anesthesia has also been reported. 11 Clinically significant, dilated cardiomyopathy develops in approximately half of the patients, and it is independent of the severity of the skeletal muscle weakness. 87,88 There is also an important respiratory involvement in patients with FKRP mutations, manifesting initially as a drop in forced vital capacity followed by nocturnal hypoventilation on the basis of diaphragmatic weakness.…”

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 98%

“…In LGMD2I, a founder mutation in fukutin-related protein (FKRP [C826A]) facilitates diagnosis. 11,85,86 The other forms of LGMD due to mutations in genes causing secondary reduction in alpha dystroglycan are more commonly associated with a congenital muscular dystrophy phenotype; however, these should be pursued for cases in which a reduction of alpha-dystroglycan is detected on muscle biopsy and mutation testing in FKRP is negative.…”

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 99%

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Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Straub

Bushby

2008

Neurotherapeutics

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Summary:Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened. The generation of mouse models helped to improve our understanding of the pathogenesis of the disease and also served to study therapeutic possibilities. All autosomal recessive limb-girdle muscular dystrophies are rare diseases, which is one reason why there have been so very few controlled clinical trials. Other reasons are insufficient natural history data and the lack of standardized assessment criteria and validated outcome measures. Currently, therapeutic possibilities are mainly restricted to symptomatic treatment and the treatment of disease complications. On the other hand, new efforts in translational research and the development of molecular therapeutic approaches suggest that more promising clinical trials will be carried out in autosomal recessive limb-girdle muscular dystrophy in the next several years.

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Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 98%

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 98%

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 99%

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Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Straub

Bushby

2008

Neurotherapeutics

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“…Le gène FKRP (fukutin related protein) a été identifié dans les -DGpathies en 2001 [41].C'est aujourd'hui le gène le plus fré-quent dans les -DGpathies post-natales, notamment du fait de la présence d'une mutation fréquente dans la population (c.826C>A ; p.Leu276Ile) [41,42] qui, à l'état homozygote, est associée aux LGMD2I (faiblesse musculaire proximale, hypertrophie des mollets et de la langue). Les autres combinaisons de mutations sont associées à d'autres types de LGMD2 ou à des phénotypes plus sévères de type CMD, MEBD, etc.…”

Section: Gènes Candidatsunclassified

Gènes impliqués dans les alpha-dystroglycanopathies

et al. 2016

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“…WB can be used to look for reduction of glycosylated -dystroglycan, which usually appears as a smeared band at ~156 kDa due to variable glycosylation of the core protein which results in a range of final molecular weights ( Figure 5). Almost all LGMD2I patients have at least one copy of the c.826C>A (L276I) mutation, a founder mutation that is particularly common in Northern European populations (Walter, Petersen et al 2004). Severe reductions in -dystroglycan by IHC and WB can also be associated with other mutations in FKRP, or with mutations in the other 'alpha-dystroglycanopathy' genes encoding glycosylation enzymes that result in CMD, WWS or MEB phenotypes (see Table 1).…”

Section: Lgmd2imentioning

confidence: 99%