Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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P1476

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations

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P2093

Kinsi Oberoi

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Leema Reddy Peddareddygari

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Raji P Grewal

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P2860

STRING: a database of predicted functional associations between proteins

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

DIDA: A curated and annotated digenic diseases database.

Digenic inheritance in medical genetics

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.

MutationTaster2: mutation prediction for the deep-sequencing age.

P304

272-278

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scholarly article

case report

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10.1159/000492664

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English

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P478

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30323756

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6180278

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