Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity

Jain, Priyank; Rajeshwari, S.; Singh, Jagjit; Kumar, Tarun; Agarwal, Sandeep; Das, Prasenjit

doi:10.3109/15513815.2015.1131783

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…from All India Institute of Medical Sciences, Delhi, reported a case of myofibrillar myopathy presenting as neonatal intestinal pseudo-obstruction. [92]…”

Section: Autosomal Dominant Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

Limb-girdle muscular dystrophies in India: A review

Khadilkar¹,

Faldu²,

Patil³

et al. 2017

Ann Indian Acad Neurol

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Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

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“…from All India Institute of Medical Sciences, Delhi, reported a case of myofibrillar myopathy presenting as neonatal intestinal pseudo-obstruction. [92]…”

Section: Autosomal Dominant Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

Limb-girdle muscular dystrophies in India: A review

Khadilkar¹,

Faldu²,

Patil³

et al. 2017

Ann Indian Acad Neurol

View full text Add to dashboard Cite

show abstract

“…3,4 In addition to MIDs, myotonic dystrophies, and muscular dystrophies, IPO has also been reported in myofibrillar myopathies. 5 Among hereditary neuropathies, IPO has been reported also in familial, intestinal, and degenerative neuropathy. 6 Visceral myopathy may be due to not only variants in MYH11 but also variants in ACTG2, NUP35, POLG1, FLNA, MYLK, RAD21, MYL9, LMOD1, and ACTA2.…”

Section: Because Secondary Intestinal Pseudo-obstruction Is Potential...mentioning

confidence: 99%

Because secondary intestinal pseudo‐obstruction is potentially treatable, its etiology needs to be clarified

Finsterer

2024

Neurogastroenterology Motil

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Pathology of Gut Motility Disorders: Chronic Intestinal Pseudoobstruction and Entities Other than Hirschsprung’s Disease

Das

Kinra

2022

Surgical Pathology of the Gastrointestinal System

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Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity

Abstract: Pure phenotypic neonatal IP presentation in a myofibrillar myopathy is extremely rare and not reported in the literature. Along with other common causes of neonatal IP, neuromuscular causes should also be investigated.

Cited by 3 publications

References 8 publications

Limb-girdle muscular dystrophies in India: A review

Limb-girdle muscular dystrophies in India: A review

Because secondary intestinal pseudo‐obstruction is potentially treatable, its etiology needs to be clarified

Pathology of Gut Motility Disorders: Chronic Intestinal Pseudoobstruction and Entities Other than Hirschsprung’s Disease

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