Whole-exome sequencing identifies mutations in
            <i>MYMK</i>
            in a mild form of Carey-Fineman-Ziter syndrome

Alrohaif, Hadil; Töpf, Ana; Evangelista, Teresinha; Lek, Monkol; McArthur, Daniel; Lochmüller, Hanns

doi:10.1212/nxg.0000000000000226

Cited by 8 publications

(2 citation statements)

References 7 publications

(7 reference statements)

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“…Disease presents as static generalised hypotonia and weakness. Facial weakness and respiratory distress, likely due to weak diaphragm, are often present [ 99 ] and resemble MYOSCO, EMARDD ( Table 1 ) and MYODRIF. Muscle biopsies from quadriceps display limited myopathic features but marked myofibre hypertrophy, likely arising from dysregulated, rather than a lack of, myoblast fusion, and generalised fibre-type disproportion that resembles SELENON-deficiency [ [99] , [100] , [101] ] ( Fig.…”

Section: Gene Mutations That Cause Primary Satellite Cell-opathiesmentioning

confidence: 99%

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Ganassi

Muntoni

Zammit

2022

Experimental Cell Research

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Muscular dystrophies and congenital myopathies arise from specific genetic mutations causing skeletal muscle weakness that reduces quality of life. Muscle health relies on resident muscle stem cells called satellite cells, which enable life-course muscle growth, maintenance, repair and regeneration. Such tuned plasticity gradually diminishes in muscle diseases, suggesting compromised satellite cell function. A central issue however, is whether the pathogenic mutation perturbs satellite cell function directly and/or indirectly via an increasingly hostile microenvironment as disease progresses. Here, we explore the effects on satellite cell function of pathogenic mutations in genes (myopathogenes) that associate with muscle disorders, to evaluate clinical and muscle pathological hallmarks that define dysfunctional satellite cells. We deploy transcriptomic analysis and comparison between muscular dystrophies and myopathies to determine the contribution of satellite cell dysfunction using literature, expression dynamics of myopathogenes and their response to the satellite cell regulator PAX7. Our multimodal approach extends current pathological classifications to define Satellite Cell-opathies: muscle disorders in which satellite cell dysfunction contributes to pathology. Primary Satellite Cell-opathies are conditions where mutations in a myopathogene directly affect satellite cell function, such as in Progressive Congenital Myopathy with Scoliosis (MYOSCO) and Carey-Fineman-Ziter Syndrome (CFZS). Primary satellite cell-opathies are generally characterised as being congenital with general hypotonia, and specific involvement of respiratory, trunk and facial muscles, although serum CK levels are usually within the normal range. Secondary Satellite Cell-opathies have mutations in myopathogenes that affect both satellite cells and muscle fibres. Such classification aids diagnosis and predicting probable disease course, as well as informing on treatment and therapeutic development.

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Section: Gene Mutations That Cause Primary Satellite Cell-opathiesmentioning

confidence: 99%

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Ganassi

Muntoni

Zammit

2022

Experimental Cell Research

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“… 10 Mutations in genes key to satellite cell function such as PAX7 , MYOD1, and MYMK have been associated with specific forms of muscle disease. 11 , 12 , 13 , 14 With respect to the involvement of satellite cells in disease progression, we have recently introduced the concept that muscular dystrophies can be classified as 1) “Primary satellite cell-opathies” in which the causative mutation exclusively affects satellite cell function, 2) “Secondary satellite cell-opathies” in which the pathogenic mutation affects both satellite cells and muscle fibers or 3) “Non-satellite cell-opathy neuromuscular disorders” in which satellite cell function is not directly affected by the causative mutation, however satellite cells are operating in an increasing hostile microenvironment that indirectly affects their ability to maintain muscle. 15 , 16 Diseases in which satellite cells are compromised by environmental factors can be added to this classification.…”

Section: Introductionmentioning

confidence: 99%

Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies

Engquist,

Greco,

Joosten

et al. 2024

iScience

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Congenital Myopathies and Related Disorders

2021

Muscle Biopsy

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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Cited by 8 publications

References 7 publications

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies

Congenital Myopathies and Related Disorders

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