Literature DB >> 28676249

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.

Megan A Waldrop1, Daniel R Boue2, Emily Sites3, Kevin M Flanigan4, Richard Shell5.   

Abstract

Entities:  

Keywords:  Native American myopathy; Pierre Robin syndrome; congenital fiber type disproportion; congenital myopathy; hypotonia; malignant hyperthermia syndrome

Mesh：

Year:  2017        PMID： 28676249      PMCID： PMC5544583          DOI： 10.1016/j.pediatrneurol.2017.01.026

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  14 in total

1.  Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.

Authors:  Natalia Gomez-Ospina; Jonathan A Bernstein
Journal:  Am J Med Genet A       Date:  2016-01-12       Impact factor: 2.802

2.  Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Authors:  Demetra S Stamm; Arthur S Aylsworth; Jeffrey M Stajich; Stephen G Kahler; Leigh B Thorne; Marcy C Speer; Cynthia M Powell
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

3.  Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation.

Authors:  Alexander Polster; Benjamin R Nelson; Eric N Olson; Kurt G Beam
Journal:  Proc Natl Acad Sci U S A       Date:  2016-09-12       Impact factor: 11.205

4.  Malignant hyperthermia in a three-month-old American Indian infant.

Authors:  A G Bailey; E C Bloch
Journal:  Anesth Analg       Date:  1987-10       Impact factor: 5.108

5.  The Camera-Marugo-Cohen syndrome: report of two new patients.

Authors:  D M Lambert; G Watters; F Andermann; V M Der Kaloustian
Journal:  Am J Med Genet       Date:  1999-09-17

Review 6.  Cerebral dysgeneses and their influence on fetal muscle development.

Authors:  H B Sarnat
Journal:  Brain Dev       Date:  1986       Impact factor: 1.961

Review 7.  Congenital fiber type disproportion--30 years on.

Authors:  Nigel F Clarke; Kathryn N North
Journal:  J Neuropathol Exp Neurol       Date:  2003-10       Impact factor: 3.685

8.  Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Authors:  D S Stamm; C M Powell; J M Stajich; V L Zismann; D A Stephan; B Chesnut; A S Aylsworth; S G Kahler; K L Deak; J R Gilbert; M C Speer
Journal:  Neurology       Date:  2008-10-08       Impact factor: 9.910

Review 9.  Current and future therapeutic approaches to the congenital myopathies.

Authors:  Heinz Jungbluth; Julien Ochala; Susan Treves; Mathias Gautel
Journal:  Semin Cell Dev Biol       Date:  2016-08-08       Impact factor: 7.727

10.  Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice.

Authors:  Xiaofei Cong; Jonathan Doering; Robert W Grange; Honglin Jiang
Journal:  Sci Rep       Date:  2016-05-17       Impact factor: 4.379
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  1 in total

1.  Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Authors:  Jean-François Desaphy; Concetta Altamura; Savine Vicart; Bertrand Fontaine
Journal:  J Neuromuscul Dis       Date:  2021
  1 in total

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