Concurrent <i>FHL1</i> -Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature

This case report describes a patient with X-linked FHL1 -related myofibrillar myopathy and Charcot-Marie-Tooth disease type 1A, a dual pathology revealed by imaging and genetic testing.

Authors

Pengfei Lin (ORCID: https://orcid.org/0000-0002-0861-5785)
Guiguan Yang
Xiaoqing Lv (ORCID: https://orcid.org/0000-0002-7199-0297)

Institutions

Qilu Hospital of Shandong University (CN)

Publication Details

Journal: JAMA Neurology
Published: 2025-09-29
DOI: https://doi.org/10.1001/jamaneurol.2025.3433
Primary Topic: Hereditary Neurological Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Concurrent FHL1 -Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature

Pengfei Lin, Guiguan Yang, Xiaoqing Lv

Sep 29, 2025

JAMA Neurology

Hereditary Neurological Disorders

article

Concurrent FHL1 -Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature

Pengfei Lin, Guiguan Yang, Xiaoqing Lv

September 29, 2025article en

Abstract

This case report describes a patient with X-linked FHL1 -related myofibrillar myopathy and Charcot-Marie-Tooth disease type 1A, a dual pathology revealed by imaging and genetic testing.

JAMA NeurologyVol. 83(2)

Qilu Hospital of Shandong University (CN)

Openalex Percentile: Top 71%

Hereditary Neurological Disorders

DOI Source OpenAlex

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