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Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2023)

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Xiaoxuan Liu et al.

Summary: Biallelic mutations in the SORD gene are a common cause of autosomal recessive axonal Charcot-Marie-Tooth (CMT2) and distal hereditary motor neuropathy (dHMN) in a large Chinese cohort. Patients with SORD mutations present with distal weakness, atrophy in the lower limb, and some may also have minor clinical sensory abnormalities and small fiber neuropathy.

FRONTIERS IN NEUROLOGY (2021)

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Article Genetics & Heredity

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese et al.

NATURE GENETICS (2020)

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Article Clinical Neurology

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

Umaiyal Kugathasan et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)

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Article Rheumatology

Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study

Helena Andersson et al.

ARTHRITIS RESEARCH & THERAPY (2017)

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Article Clinical Neurology

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

Jasper M. Morrow et al.

LANCET NEUROLOGY (2016)

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Article Clinical Neurology

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

E Mercuri et al.

NEUROMUSCULAR DISORDERS (2002)

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Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy

相关参考文献

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

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