A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency

Bisciglia, M.; Froissart, Roseline; Bedat-Millet, Anne Laure; Romero, Norma B.; Pettazzoni, Magali; Hogrel, Jean‐Yves; Petit, François; Stojkovic, Tanya

doi:10.1016/j.jns.2021.117391

Cited by 5 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations in PHKA1 have been reported to cause GSD IXd, an X-linked ultra-rare disease with mild myopathic symptoms, including exercise intolerance, cramps, myalgia, weakness, and myoglobulinuria ( 6 ). To the best of our knowledge, only 13 patients with GSD IXd have been reported to have mutations in the PHKA1 gene ( 12 , 13 ). In this article, we describe three patients from unrelated families with GSD IXd, with manifestations of exercise intolerance.…”

Section: Introductionmentioning

confidence: 99%

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Huang

Duan

et al. 2022

Front. Neurol.

View full text Add to dashboard Cite

BackgroundGlycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms. To date, only 13 patients with GSD IXd have been reported. In this study, we aimed to expand the clinicopathological-genetic spectrum of GSD IXd at a neuromuscular center in China.MethodsData on patients diagnosed with GSD IXd at our neuromuscular center were collected retrospectively. Clinical features, electrophysiology, muscle pathology, and genetic information were analyzed.ResultsBetween 2015 and 2021, three patients were diagnosed with GSD IXd based on clinical manifestations, pathological findings, and genetic testing. One patient presented with mitochondrial myopathy. All patients exhibited muscle weakness and elevated levels of creatine kinase. Electromyography-detected myopathic changes were found in two patients, whereas one patient refused to undergo this examination. Pathological examinations in all patients revealed subsarcolemmal accumulation of glycogen under PAS staining. All patients had mutations in the PHKA1 gene and the patient with mitochondrial myopathy also had a mutation in the MT-TL1 gene.ConclusionOur study expands the clinicogenotype and phenotype of GSD IXd in a Chinese population. Our study also expands the known mutation spectrum for GSD IXd, contributing to a better characterization and understanding of this ultrarare neuromuscular disorder.

show abstract

Section: Introductionmentioning

confidence: 99%

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Huang

Duan

et al. 2022

Front. Neurol.

View full text Add to dashboard Cite

show abstract

“…Surprisingly, electromyography of the biceps brachii and trapezius muscle at rest showed typical myotonic discharges (Figure 1C). 4 The disease slowly worsens and becomes apparent later in life. As a result, its true frequency in the population may be underestimated.…”

mentioning

confidence: 99%

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges

et al. 2022

View full text Add to dashboard Cite

Glycogen storage disease type IXD (GSD9D, OMIM 300559) is a rare metabolic myopathy characterized by exercise intolerance, myoglobinuria, myalgia, cramps, and myopathy. 1 The pattern of muscle involvement has been recognized as a phenotype of primarily proximal weakness or primarily distal involvement. GSD9D is caused by muscle phosphorylase kinase deficiency, a key regulator of glycogen metabolism. This PHK protein plays a critical role in regulating glucose release from glycogen to obtain sufficient energy for muscle contrac-

show abstract

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review

Mori‐Yoshimura

Aizawa

Oya

et al. 2022

Neuromuscular Disorders

View full text Add to dashboard Cite

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency

Cited by 5 publications

References 20 publications

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review

Contact Info

Product

Resources

About