# Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-mylpf-cause-a-novel-segmental-amyoplasia-that-manifests-as-distal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jessica X. Chong,Jared C. Talbot,Emily M. Teets,Samantha Beck Previs,Brit L. Martin,Kathryn M. Shively,Colby T. Marvin,Arthur S. Aylsworth,Reem Saadeh‐Haddad,Ulrich A. Schatz,Francesca Inzana,Tawfeg Ben‐Omran,Fatima Almusafri,Mariam AlMulla,Kati J. Buckingham,Tamar Harel,Hagar Mor‐Shaked,Periyasamy Radhakrishnan,Katta M. Girisha,Shalini S. Nayak,Anju Shukla,Klaus Dieterich,Julien Fauré,John Rendu,Yline Capri,Xénia Latypova,Deborah A. Nickerson,David M. Warshaw,Paul M.L. Janssen,Sharon L. Amacher,Michael J. Bamshad |
| Citations | 36 |
| DOI | 10.1016/j.ajhg.2020.06.014 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929720302020/pdf |
| OpenAlex ID | https://openalex.org/W3044311888 |
| PMID | 32707087 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Hagar Mor‐Shaked](https://scholariq.org/researchers/hagar-mor-shaked/)

## Paper primary topic

- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)

## Paper topics

- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Cardiomyopathy and Myosin Studies](https://scholariq.org/topics/cardiomyopathy-and-myosin-studies/)
- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.