Two Novel Mutations in the HMGCR Gene Causing Autosomal Recessive Limb-girdle Muscular Dystrophy (P8-9.009)

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Two novel genetic variants in the HMGCR gene cause autosomal recessive limb-girdle muscular dystrophy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Taylor Stevens; Jordan Bontrager; Johanna Hamel

doi:10.1212/wnl.0000000000215815

June 9, 2026Neurology

Two Novel Mutations in the HMGCR Gene Causing Autosomal Recessive Limb-girdle Muscular Dystrophy (P8-9.009)

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Key Points

The aim is to describe two new mutations in the HMGCR gene that are associated with limb-girdle muscular dystrophy.
Genetic analysis was conducted to identify mutations in the HMGCR gene.
Clinical assessment of affected individuals was performed.
Two distinct novel mutations were identified in the HMGCR gene.
These mutations are implicated in the development of autosomal recessive limb-girdle muscular dystrophy.

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Implication

Identifies genetic variants causing limb-girdle muscular dystrophy, suggesting new pathways for diagnosis.

Abstract

To describe two novel genetic variants in HMGCR leading to Limb-Girdle Muscular Dystrophy.

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Cite This Study

Stevens et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf34dfaef96ed7f055d40 https://doi.org/10.1212/wnl.0000000000215815

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Two Novel Mutations in the HMGCR Gene Causing Autosomal Recessive Limb-girdle Muscular Dystrophy (P8-9.009)

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

Two Novel Mutations in the HMGCR Gene Causing Autosomal Recessive Limb-girdle Muscular Dystrophy (P8-9.009)

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

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