The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000003400
Abstract: ABSTRACT Background and Aims: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to… read more here.
Keywords: intestinal dysmotility; actg2 related; actg2; related disorders ... See more keywords
Diverse phenotype of hypokalaemic periodic paralysis within a family
Sign Up to like & getrecommendations! Published in 2017 at "Practical Neurology"
DOI: 10.1136/practneurol-2017-001677
Abstract: Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive.… read more here.
Keywords: periodic paralysis; hypokalaemic periodic; family; paralysis ... See more keywords