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Allergies s None s Othe r Gender sM sF Primary Language Referring Physician Patient Information Patient Name (First and Last) Parent/Guardian Name Reset Form Specialty Physician Provider/Tax ID # Insurance Information/ Attach Copy of Insura.

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Spinal muscular atrophy (SMA) is a disorder that affects the motor neurons. SMA is caused by a mutation in a part of the DNA called the survival motor neuron (SMN1) gene, which normally produces a protein called SMN.

SMN1 is the disease gene because it produces FL SMN protein. The SMN2 allele is the disease-modifying gene because of a single nucleotide difference in exon 7 that results in alternative processing of its mRNA and editing out of exon 7.

Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.

The translated product SMN is a 30 kDa essential protein that is expressed in almost every cell: in both the nucleus and the cytoplasm. SMN loss from the cellular machinery results in reduced SMN protein expression, leading to a degeneration of motor neurons and progressive muscle weakness and atrophy [6,7,8].

Spinal Muscular Atrophy. Detailed Description: Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive motor neuron disease that is caused by deficiency of full-length survival motor neuron (SMN) protein.

The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes.

SMN and the cytoskeleton It is crucial for signalling and trafficking of various molecules, but also for the formation of growth cones during neuronal development.

Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.

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© Copyright 1997-2025
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Form Packages
Adoption
Bankruptcy
Contractors
Divorce
Home Sales
Employment
Identity Theft
Incorporation
Landlord Tenant
Living Trust
Name Change
Personal Planning
Small Business
Wills & Estates
Packages A-Z
Form Categories
Affidavits
Bankruptcy
Bill of Sale
Corporate - LLC
Divorce
Employment
Identity Theft
Internet Technology
Landlord Tenant
Living Wills
Name Change
Power of Attorney
Real Estate
Small Estates
Wills
All Forms
Forms A-Z
Form Library
Customer Service
Terms of Service
DMCA Policy
About Us
Blog
Affiliates
Contact Us
Privacy Notice
Delete My Account
Site Map
All Forms
Search all Forms
Industries
Forms in Spanish
Localized Forms
Legal Guides
Real Estate Handbook
All Guides
Prepared for You
Notarize
Incorporation services
Our Customers
For Consumers
For Small Business
For Attorneys
Our Sites
US Legal Forms
USLegal
FormsPass
pdfFiller
signNow
airSlate workflows
DocHub
Instapage
Social Media
Call us now toll free:
1-877-389-0141
As seen in:
  • USA Today logo picture
  • CBC News logo picture
  • LA Times logo picture
  • The Washington Post logo picture
  • AP logo picture
  • Forbes logo picture
© Copyright 1997-2025
airSlate Legal Forms, Inc.
3720 Flowood Dr, Flowood, Mississippi 39232