Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy

Louboutin, Jean‐Pierre; Villanova, Marcello; Ulrich, Gabriele M.; Clerck, Luc S. De; Fardeau, Michel; Sagniez, M

doi:10.1002/(sici)1097-4598(199609)19:9<1144::aid-mus10>3.0.co;2-v

Cited by 11 publications

(5 citation statements)

References 18 publications

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“…The first family has already been reported on and extensively studied. [3][4][5][6] The three additional families are new and unrelated, with a total of seven affected boys, and present similar clinical and histopathological features to the first family. All patients' medical history was characterised by a slow progression of limb girdle muscle weakness beginning in infancy, without calf hypertrophy, mental retardation or cardiac involvement.…”

Section: Families and Clinical Presentationmentioning

confidence: 99%

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

et al. 2000

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X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at θ = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.

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Section: Families and Clinical Presentationmentioning

confidence: 99%

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

et al. 2000

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“…6 The histologic hallmark is the presence of numerous autophagic vacuoles with accumulated sarcolemmal proteins and deposition of complement C5b-9. 10 Classic XMEA affects limb-girdle muscles, predominantly in the lower extremities, and presents during childhood, but neonatal and late-onset cases have also been reported. 11,12 The progression is very slow, extramuscular organs are not clinically affected, and CK typically ranges from 400 U/L to greater than 4,000 U/L.…”

Section: Discussionmentioning

confidence: 99%

“…6 The histologic hallmark is the presence of numerous autophagic vacuoles with accumulated sarcolemmal proteins and deposition of complement C5b-9. 10…”

Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: A 59-Year-Old Man With Progressive Proximal Weakness Since Childhood

et al. 2021

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His gait was slow with a decreased stride length and narrow base. Sensory exam was normal. Questions for consideration:1. Where would you localize this process? 2. Is this an acquired or inherited disease?3. What testing would be helpful to narrow the differential? Section 2Given the lack of sensory involvement, possible localizations include anterior horn cells, motor nerve roots, neuromuscular junction, and muscles. His presentation of symmetrical biceps and lower

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“…The role of complement in the pathogenesis of this muscular disease was emphasized by the deposition of the complement C5b-9 membrane attack complex (MAC) over all histologically abnormal muscle fibers, 2 and by the elevation of the complement components C5 and C9 in the sera of the patients. 3 An accumulation of calcium was also demonstrated on the sarcolemma of muscle fibers in XLVM. 4 We have demonstrated MHC I expression in XLVM, 2 but the mechanism underlying this expression was not clearly understood.…”

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confidence: 96%

X-Linked Vacuolated Myopathy

Rouger

Louboutin

Villanova

et al. 2001

The American Journal of Pathology

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The presence and the distribution of tumor necrosis factor-alpha, interferon-gamma, and p65 subunit of nuclear factor-kappaB, molecules known to induce synergistically and to mediate major histocompatibility complex (MHC) class I expression, were determined in muscle sections from control and X-linked vacuolated myopathy patients. MHC class I colocalized with tumor necrosis factor-alpha and interferon-gamma, as well as with p65, in most of the membrane attack complex- and/or calcium-positive muscle fibers in X-linked vacuolated myopathy. These results suggest that the expression of MHC class I in X-linked vacuolated myopathy could be induced by tumor necrosis factor-alpha and interferon-gamma and partly mediated by nuclear factor-kappaB.

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Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy

Cited by 11 publications

References 18 publications

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

Clinical Reasoning: A 59-Year-Old Man With Progressive Proximal Weakness Since Childhood

X-Linked Vacuolated Myopathy

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