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Native American myopathy

Known as: Congenital myopathy cleft palate and malignant hyperthermia, MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA, NAM 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceBlepharoptosisByzanthine arch palateCryptorchidism

Broader (3)

Cleft PalateMalignant hyperpyrexia due to anesthesiaMyotonia Congenita

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians… 
2017
2017
Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy… 
2017
2017
Structural insights into binding of STAC proteins to voltage-gated calcium channels
Significance Skeletal muscle contraction is a tightly orchestrated event that starts with the depolarization of the T-tubular… 
2017
2017
STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads
The adaptor protein STAC3 is essential for skeletal muscle excitation-contraction (EC) coupling and a mutation in the STAC3 gene… 
2016
2016
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3
Significance Skeletal muscle contractions are regulated by a process called excitation–contraction (EC) coupling, and defects in… 
Review
2015
Review
2015
Bandwagoning, Balancing, and Small States: A Case of Sri Lanka
This article reviews two popular foreign policy orientations of small states: bandwagoning and balancing. The policies show how… 
Highly Cited
2013
Highly Cited
2013
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy
Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane… 
Highly Cited
2013
Highly Cited
2013
Reanalysis-driven climate simulation over CORDEX North America domain using the Canadian Regional Climate Model, version 5: model performance evaluation
The performance of reanalysis-driven Canadian Regional Climate Model, version 5 (CRCM5) in reproducing the present climate over… 
Highly Cited
2008
Highly Cited
2008
Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia
Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians… 
2008
2008
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1
Background: Native American myopathy (NAM) is an autosomal recessive congenital myopathy first reported in the Lumbee Indian… 
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