rsmd | Rigid spine muscular dystrophy: MedlinePlus Genetics

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rsmd	2	0.6	6652	76	4

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Rigid spine muscular dystrophy: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy/

WEBRigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of …

DA: 98 PA: 39 MOZ Rank: 31

Rigid Spine Muscular Dystrophy | SpringerLink
springer.com

https://link.springer.com/referenceworkentry/10.1007/978-3-319-66816-1_1633-1

WEBAug 2, 2023 · Rigid spine muscular dystrophy (RSMD) is a rare congenital myopathy linked to mutations in the SEPN1 gene on chromosome 1p36, following an autosomal recessive pattern. RSMD presents with limited spinal flexion, scoliosis, muscle weakness, and reduced respiratory capacity.

DA: 21 PA: 100 MOZ Rank: 58

Rigid spine muscular dystrophy - MedlinePlus
medlineplus.gov

https://medlineplus.gov/download/genetics/condition/rigid-spine-muscular-dystrophy.pdf

WEBDescription. Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles).

DA: 93 PA: 6 MOZ Rank: 84

Rigid Spine Muscular Dystrophy (RSMD)
musculardystrophynews.com

https://musculardystrophynews.com/rigid-spine-muscular-dystrophy-rsmd/

WEBAug 26, 2019 · Rigid spine muscular dystrophy (RSMD), sometimes referred to as rigid spine syndrome (RSS), is a type of congenital muscular dystrophy — a group of diseases characterized by muscle wasting and weakness very early in life. RSMD involves weakness of the muscles of the torso and neck, and can cause spine stiffness and …

DA: 79 PA: 47 MOZ Rank: 30

Properties of small rRNA methyltransferase RsmD: Mutational …
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3358640/

WEBFeb 17, 2012 · Abstract. Ribosomal RNA modification is accomplished by a variety of enzymes acting on all stages of ribosome assembly. Among rRNA methyltransferases of Escherichia coli, RsmD deserves special attention. Despite its minimalistic domain architecture, it is able to recognize a single target nucleotide G966 of the 16S rRNA.

DA: 19 PA: 62 MOZ Rank: 2

Eichsfeld type congenital muscular dystrophy (Concept Id: …
nih.gov

https://www.ncbi.nlm.nih.gov/medgen/98047

WEBDefinition. Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles).

DA: 45 PA: 92 MOZ Rank: 38

SEPN1 | Mydystrophia
mydystrophia.com

https://www.mydystrophia.com/about-sepn1-rsmd

WEBWhat is RSMD1? The congenital muscular dystrophies are a group of conditions which share early presentation and a similar appearance of the muscle. Congenital means ‘from birth’ and in congenital muscular dystrophy the initial symptoms are present at birth or in the first few months.

DA: 70 PA: 33 MOZ Rank: 44

Cooperative role of AtRsmD and AtRimM proteins in modification …
wiley.com

https://onlinelibrary.wiley.com/doi/full/10.1111/tpj.16135

WEBFeb 8, 2023 · In summary, this study reveals that AtRsmD methyltransferase and ribosome assembly factor AtRimM function in the modification and maturation of 16S rRNA during ribosome assembly, which is critical for sustaining chloroplast proteostasis during early chloroplast biogenesis.

DA: 69 PA: 93 MOZ Rank: 37

SELENON/SEPN1, Rigid Spine Muscular Dystrophy, RSMD
curecmd.org

https://www.curecmd.org/sepn1-selenon

WEBSELENON/SEPN1, Rigid Spine Muscular Dystrophy, RSMD | Cure CMD. Owen Andre Gross Motor Weaknesses. SELENON. The SEPN1/SELENON gene produces a protein called selenoprotein N1, part of the selenoprotein family for muscles. Video library: Owen. Logan. Ask the Expert. Video Playlist. Characteristics of SELENON-RM. Rigid spine. …

DA: 11 PA: 8 MOZ Rank: 20

Properties of small rRNA methyltransferase RsmD: mutational
nih.gov

https://pubmed.ncbi.nlm.nih.gov/22535590/

WEBAmong rRNA methyltransferases of Escherichia coli, RsmD deserves special attention. Despite its minimalistic domain architecture, it is able to recognize a single target nucleotide G966 of the 16S rRNA. RsmD acts late in the assembly process and is able to modify a completely assembled 30S subunit.

DA: 56 PA: 19 MOZ Rank: 93