ACTG2variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

(2015) Joakim Klar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

(2015) Lea Tuzovic et al.   FETAL DIAGNOSIS AND THERAPY

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

(2014) Øystein Holla et al.   ENDOSCOPY

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

(2014) Julie Gauthier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

(2014) Michael F. Wangler et al.   PLoS Genetics

Smooth muscle actin isoforms: A tug of war between contraction and compliance

(2013) Richard Arnoldi et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

(2013) Willa Thorson et al.   HUMAN GENETICS

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

(2013) Danielle Mc Laughlin et al.   PEDIATRIC SURGERY INTERNATIONAL

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

(2012) J. Richer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ-2 With Autosomal Dominant Familial Visceral Myopathy

(2012) Heli J. Lehtonen et al.   GASTROENTEROLOGY

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

(2010) Dianna M. Milewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

(2010) Raj P. Kapur et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Diversion Colitis in a 19-Year-Old Female with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

(2009) Anita Talisetti et al.   DIGESTIVE DISEASES AND SCIENCES

Absent Smooth Muscle Actin Immunoreactivity of the Small Bowel Muscularis Propria Circular Layer in Association with Chromosome 15q11 Deletion in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

(2009) Reka Szigeti et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

(2008) Jill Clayton-Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS